Article
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Human molecular genetics - 15 May 2015
Sasarman Florin, Thiffault Isabelle, Weraarpachai Woranontee, Salomon Steven, Maftei Catalina, Gauthier Julie, Ellazam Benjamin, Webb Neil, Antonicka Hana, Janer Alexandre, Brunel-Guitton Catherine, Elpeleg Orly, Mitchell Grant, Shoubridge Eric A
Abstract excerpt
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations in two unrelated subjects with different clinical features. The first presented with acute lactic acidosis at 3 weeks...
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